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A family affected by branchio-oto syndrome with EYA1 mutations

โœ Scribed by Satoshi Fukuda; Tsutomu Kuroda; Eiji Chida; Rie Shimizu; Shin-ichi Usami; Eiko Koda; Satoko Abe; Atsushi Namba; Ken Kitamura; Yukio Inuyama


Book ID
117544722
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
323 KB
Volume
28
Category
Article
ISSN
0385-8146

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## Communicated by Mark H. Paalman EYA1 mutations cause branchio-oto-renal (BOR) syndrome. These mutations include single nucleotide transitions and transversions, small duplications and deletions, and complex genomic rearrangements. The last cannot be detected by coding sequence analysis of EYA1.

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